17 results on '"Cazeneuve, Cécile"'
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2. Charcot-Marie-Tooth Disease Type 2A: From Typical to Rare Phenotypic and Genotypic Features
3. Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy
4. Phenotype difference between ALS patients with expanded repeats in C9ORF72 and patients with mutations in other ALS-related genes
5. Factors Influencing Disease Progression in Autosomal Dominant Cerebellar Ataxia and Spastic Paraplegia
6. Characteristics of clinical and electrophysiological pattern of Charcot-Marie-Tooth 4C
7. REEP1 mutations in SPG31: Frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction
8. SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype–phenotype correlations
9. Parkinsonʼs disease-related LRRK2 G2019S mutation results from independent mutational events in humans
10. Accumulation of TDP-43 and α-actin in an amyotrophic lateral sclerosis patient with the K17I ANG mutation
11. Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia
12. Huntingtonʼs disease-like 2 in Brazil—Report of 4 patients
13. Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia
14. Interaction of Pyrin With 14.3.3 in an Isoform-Specific and Phosphorylation-Dependent Manner Regulates Its Translocation to the Nucleus
15. Familial Mediterranean Fever Among Patients From Karabakh and the Diagnostic Value of MEFV Gene Analysis in All Classically Affected Populations
16. Cystic fibrosis patients with the 3272-26A>G splicing mutation have milder disease than F508del homozygotes: a large European study
17. Liver iron accumulation in patients with chronic active hepatitis C: prevalence and role of hemochromatosis gene mutations and relationship with hepatic histological lesions
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